Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 2 1.0E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		565 0 1 1.7E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.7E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 2.2E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.2E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.3E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.3E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 2 2.6E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.7E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.7E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.8E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.8E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.9E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 1 2.9E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 2.9E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.9E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 1 3.0E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 3.1E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 2 3.1E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 3.2E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 2 3.2E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 33 3.2E-03 0 0